MEDLIB
Orphanet Database

Rare diseases

7,547 diseases with genetics, phenotypes, and epidemiology

7,547Diseases
4 552Genes
8 700Phenotypes

Metabolic myopathy due to lactate transporter defect

ORPHA:171690Disease
Autosomal dominant

Metachondromatosis

ORPHA:2499Malform.
Autosomal dominant

Metachromatic leukodystrophy

ORPHA:512Disease
Autosomal recessive

Metachromatic leukodystrophy, adult form

ORPHA:309271Clin. sub.
Autosomal recessive

Metachromatic leukodystrophy, juvenile form

ORPHA:309263Clin. sub.
Autosomal recessive

Metachromatic leukodystrophy, late infantile form

ORPHA:309256Clin. sub.
Autosomal recessive

Metaphyseal anadysplasia

ORPHA:1040Disease
Autosomal dominant, Autosomal recessive

Metaphyseal chondrodysplasia, Jansen type

ORPHA:33067Disease
Autosomal dominant

Metaphyseal chondrodysplasia, Kaitila type

ORPHA:166038Disease

Metaphyseal chondrodysplasia, Rosenberg type

ORPHA:1837Disease

Metaphyseal chondrodysplasia, Schmid type

ORPHA:174Disease
Autosomal dominant

Metaphyseal chondrodysplasia, Spahr type

ORPHA:2501Disease
Autosomal recessive

Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria

ORPHA:99646Disease
Not applicable

Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome

ORPHA:2502Malform.
Autosomal recessive

Metaphyseal dysplasia, Braun-Tinschert type

ORPHA:85188Malform.

Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome

ORPHA:2504Malform.
Autosomal dominant

Metaplastic carcinoma of the breast

ORPHA:213531Disease

Metatropic dysplasia

ORPHA:2635Disease
Autosomal dominant, Not applicable

Methanol poisoning

ORPHA:31825Disease
Not applicable

Methimazole embryofetopathy

ORPHA:1923Malform.
Not applicable

Methionine adenosyltransferase I/III deficiency

ORPHA:168598Disease
Autosomal recessive

Methotrexate toxicity

ORPHA:565782Disease
Not applicable

Methylcobalamin deficiency type cblDv1

ORPHA:308380Clin. sub.
Autosomal recessive

Methylcobalamin deficiency type cblE

ORPHA:2169Clin. sub.
Autosomal recessive